Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution

Clinical Genetics
J C ZentenoS Kofman-Alfaro

Abstract

A new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome is described. The proposita, a 17-year-old female, showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands and ectrodactyly in the feet. Several members of the family had similar malformations, and others presented minor manifestations of the disease (brachydactyly and nail dysplasia). This is the fourth familial case reported in the literature with the triphalangeal thumb and brachyectrodactyly complex and the third of Mexican origin, reflecting a geographical predominance in the occurrence of this uncommon pathology.

References

Oct 1, 1981·Clinical Genetics·F MajewskiT Goecke
Oct 1, 1980·Clinical Genetics·A CarnevaleP Torres
Jun 15, 1993·American Journal of Medical Genetics·E A WulfsbergS J Meister

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Citations

Oct 17, 2008·American Journal of Medical Genetics. Part a·Alaina M BrownThaddeus E Kelly
Oct 18, 2002·Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society·A Pérez-CabreraJ C Zenteno
Nov 23, 2006·Birth Defects Research. Part A, Clinical and Molecular Teratology·Alison M ElliottJane A Evans

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